hrp0086s9.1 | Recent advances in congenital adrenal hyperplasia | ESPE2016

Long-term Health in Congenital Adrenal Hyperplasia: Lessons from a National Study

Nordenstrom Anna

Congenital adrenal hyperplasia (CAH) is lethal in its most severe forms if not treated with glucocorticoids. However, glucocorticoids may increase the cardiovascular and metabolic morbidity. The long term outcome in CAH was studied using the Swedish national CAH registry, 588 patients 335 females and 253 males, >80% with known severity of CAH; were compared with 100 controls per patient matched for sex, and year and place of birth. Information on mortalty, cause of death, ...

hrp0086wg1.6 | ESPE Disorders of Sex Development Working Group (DSD) | ESPE2016

Fertility in Persons with DSD, Results From the dsd-LIFE Study

Nordenstrom Anna

Introduction: Disorders of sex development (DSD) describes conditions affecting gonadal and adrenal function and therefore to large extent affect fertility. In some cases the gonads have been removed due to risk of malignancy. Information to the patients about their fertility and treatment options have not been optimal in the past.Objective: To describe fertility outcome in the different diagnostic groups of DSD and to assess to what extent assisted repr...

hrp0089p1-p227 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

Testosterone Levels in Newborn Boys and Girls Related to Penile Length, Anogenital Distance (AGD) and External Genitalia Score (EGS)

Sigurdsson Jon , Bartuseviciene Inga , Nordenstrom Anna

Background: Testosterone levels in newborns are changing over the first weeks of life. This dynamic change is making the assessment of infants with ambiguous genitalia complicated. The Clinical laboratory at Karolinska offer two different methods for measurement of serum testosterone, ECLIA (electrochemiluminescense immunoassay) and Liquid chromatography–tandem mass spectrometry (LC–MS/MS). It is important to evaluate these two metho...

hrp0094yb2.1 | Year of Paediatric Endocrinology 2 | ESPE2021

DSD and Transgender - Updates 2021

Flueck Christa , Cools Martine , Nordenstrom Anna ,

In the past year, basic and genetic studies revealed again novel genes and mechanisms implicated in 46,XX and 46,XY DSD. The Fgf9-/- mouse model of human synostosis syndromes revealed an unexpected male-to-female sex reversal phenotype, so far not observed in humans. Specific heterozygous human WT1 gene variants located in the 4th zinc finger were found to cause 46,XX virilization due to (ovo-)testicular DSD, and the transcription factor...

hrp0089p1-p001 | Adrenals and HPA Axis P1 | ESPE2018

Evaluation of Long Term Metabolic Effects After Prenatal Dexamethasone Treatment in the Context of CAH – the Swedish Cohort

Wallensteen Lena , Karlsson Leif , Messina Valeria , Nordenstrom Anna , Lajic Svetlana

Background: Prenatal dexamethasone (DEX) treatment is in many countries offered to the pregnant woman, at risk of having a child with classic congenital adrenal hyperplasia (CAH), to reduce virilization in an affected female fetus. The treatment is effective in reducing virilization but may give long lasting effects on somatic and cognitive health. Here, we explore the potential effect on metabolism in children and adults not having CAH and exposed to DEX during the first trim...

hrp0089p1-p003 | Adrenals and HPA Axis P1 | ESPE2018

Cognition in Children with Congenital Adrenal Hyperplasia

Messina Valeria , Karlsson Leif , Hirvikoski Tatja , Nordenstrom Anna , Lajic Svetlana

Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders, affecting around 1/10 000 newborns worldwide. Postnatally, patients with classic CAH are treated with life-long glucocorticoid (GC) replacement therapy, such as hydrocortisone or prednisolone, and in the more severe cases also with mineralocorticoids. A negative impact of GCs on human cognition such as memory deficits have been reported bot...

hrp0089p2-p371 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

No Difference in Cognitive Performance or Gender Role Behaviour in Men with and without Hypospadias

Strandqvist Anna , Ortqvist Lisa , Frisen Louise , Nordenskjold Agneta , Herlitz Agneta , Nordenstrom Anna

Background: Hypospadias is a common malformation of male external genitalia, resulting in urethral displacement with different severity. Male genital development occurs during fetal development when also the brain is developing rapidly. Genital development is dependent on androgen effect, and androgens also have impact on gender development. We here explore whether hypospadias are associated with variation in other aspects of sex typical development.<p c...

hrp0089fc1.2 | Adrenals &amp; HPA Axis | ESPE2018

Long-term Effects of Prenatal Dexamethasone Treatment and Postnatal Glucocorticoid Treatment on Brain Structure in the Context of CAH

Westeinde Annelies van't , Karlsson Leif , Sandberg Malin , Nordenstrom Anna , Paddila Nelly , Lajic Svetlana

Objective: Congenital Adrenal Hyperplasia (CAH) requires life-long replacement of cortisol. Female fetuses with classical CAH are virilized, which can be prevented by prenatal dexamethasone (DEX) treatment from gestational week 7. However, 7 out of 8 fetuses are treated unnecessarily during fetal life and are thus exposed to high prenatal glucocorticoid (GC) levels. Both prenatal exposures to high GC levels, as well as long term postnatal GC-treatment in patients with CAH are ...

hrp0089p3-p348 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

Significant Penile Growth with Local DHT-Gel in an Infant with 17-Beta HSD-Deficiency

Halldin Stenlid Maria , Nordenskjold Agneta , Frisen Louise , Svensson Johan , Lajic Svetlana , Nordenstrom Anna

We demonstrate significant penile growth in an infant with 17 beta HSD-deficiency treated with DHT-gel.Background: The child was born with ambiguous genitalia at full term. Investigations revealed 46,XY karyotype, testosterone and DHT levels were 2.5 nmol/L and <0.1 nmol/L respectively. No female internal genitalia were found. hCG stimulation did not result in an increase in testosterone, but a clinically obvious increase in phallus size. Subsequent ...

hrp0086p1-p18 | Adrenal P1 | ESPE2016

Adult Individuals with Classic Congenital Adrenal Hyperplasia Exhibit Deficits in Executive Functions

Karlsson Leif , Zimmermann Marius , Wallensteen Lena , Barbaro Michela , Nordenstrom Anna , Hirvikoski Tatja , Lajic Svetlana

Background: Individuals with classic congenital adrenal hyperplasia (CAH) are treated postnatally with glucocorticoids. Earlier research with animals and other disorders with excess GC exposure implicate that GCs can influence memory. Deficits in working memory can be seen already during childhood in children with classic CAH.Objective: We tested the hypothesis that adult individuals with classic CAH show impaired cognitive functions.<p class="abstex...